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Immunogen sequence: LWQGINLVLL TRSPSAPLAL VLSQLMDGFS MLEKKLKEGP EPGASLRSQP LVGDLRQRMD KFVKNRGAQE IQSTWLEFKA KAFSK
Highest antigen sequence identity to the following orthologs: Mouse - 75%, Rat - 74%.
Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous, autosomal recessive disorder. It is characterized by oculocutaneous albinism, lysosomal storage defects and prolonged bleeding due to platelet storage pool deficiency. There are 10 HPS genes encoding HPS proteins that all interact within three distinct ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in these genes cause HPS. HSP-1 is a component of multiple cytoplasmic organelles and is important for their normal development and function. It plays a role in intracellular protein sorting.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BLOC-3 complex member HPS1; Hermansky-Pudlak syndrome 1 protein; MGC5277
Gene Aliases: BLOC3S1; HPS; HPS1
UniProt ID: (Human) Q92902
Entrez Gene ID: (Human) 3257
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